Case report: Suspecting guanine nucleotide-binding protein beta 1 mutation in dyskinetic cerebral palsy is important.
GNB1
case report
cerebral palsy
developmental delay
dystonia
Journal
Frontiers in pediatrics
ISSN: 2296-2360
Titre abrégé: Front Pediatr
Pays: Switzerland
ID NLM: 101615492
Informations de publication
Date de publication:
2023
2023
Historique:
received:
10
05
2023
accepted:
25
09
2023
medline:
30
10
2023
pubmed:
30
10
2023
entrez:
30
10
2023
Statut:
epublish
Résumé
Herein, we describe the case of a 43-month-old girl who presented with clinical manifestations of dyskinetic cerebral palsy (CP), classified as the Gross Motor Function Classification System (GMFCS) V. The patient had no family history of neurological or perinatal disorders. Despite early rehabilitation, serial assessments using the Gross Motor Function Measure (GMFM) showed no significant improvements in gross motor function. Brain magnetic resonance imaging showed nonspecific findings that could not account for developmental delay or dystonia. Whole-genome sequencing identified a heterozygous NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) mutation in guanine nucleotide-binding protein beta 1 (
Identifiants
pubmed: 37900673
doi: 10.3389/fped.2023.1204360
pmc: PMC10611516
doi:
Types de publication
Case Reports
Langues
eng
Pagination
1204360Informations de copyright
© 2023 Choi, Na, Lee, Lee, Jang, Kim and Kwon.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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